I guess I didn’t want to leave the warm cocoon of my mother’s belly because of all the problems in the world I would face with my health. That was evident when they found that when I exited finally the cord was wrapped around my neck. So life begins as a “blue” baby. And that’s not the half of it. Getting ahead in the world was already a challenge since before all that excitement apparently I had a dropped chromosome that eventually would be given the name “22q.11.2 Deletion Syndrome. In 1954 when I entered the world, that medical condition was not even discovered yet. One in about every 2,000 babies is born with this heavy burden.
22q.11.2 Deletion Syndrome manifests itself in many ways. Some of the symptoms are heart problems, cleft palate, thyroid problems, speech problems or delays, learning disabilities and what is called velo-cardio-facial syndrome, some have psychotic issues and others have social development problems. I have all the above mentioned symptoms, minus the psychotic issues for now, plus a few more. Small hands and feet are very common (I have them) and some kids are short in stature – that is not me – I am 5’6” tall. It varies from person to person how it shows up, that is why it wasn’t discovered until 1965. All unrelated symptoms I was born with and as such all treated separately. It can be either passed from one parent to the child or it can be new to the family, like it is in my case. Being born the middle child of a family of five girls is a challenge in itself. Perhaps I was looking for attention even before I came into the world.
Now, when I look at pictures of myself as a youngster I can see right away my face is kind of funny looking. One of the first challenges I encountered was that I had a “soft” palate. I was and still am a picky eater. The doctor had fashioned a device that would fit into the roof of my mouth that had a “bulb” attached to the end of it. Every night I would do this exercise of putting this in my mouth and pump the bulb so that it would inflate right up against the palate. Instead of having surgery this is how they dealt with that challenge.
Kindergarten in the little red school house began at the normal age. I was painfully shy and a very quiet child. This goes back to how I looked compared to all the kids around. In the small town I grew up in on Long Island and having only one Catholic school, they had a huge number of children in class size and with my shyness I was easily lost and overwhelmed with the work required in all the lessons. With my poor health I was absent quite a bit so that did not help matters much. My parents did work with me at home but because of my learning disability it was quite the struggle. All through school actually, it is very evident that this learning disability exists to this day since my report cards were less than stellar. On almost every subject there is in the “Remarks Section” the glaring statement “Needs Improvement.” Even just a few years ago while taking a college Math course I had to go to a tutor and just barely passed. I didn’t like school that much, but did eventually receive a certificate in Paralegal studies. In my spare time I learned how to crochet, and I like to watch spectator sports including baseball, football and hockey. Oh, and I traveled over to Ireland twice to search out my roots and have written a detailed family history going back to the early 1800’s. And I was able to get an Irish citizenship so I have dual citizenship.
I also had another challenge to face and that was with my speech. That didn’t stop me from making friends that I still keep in touch with over fifty years later. My parents hired my English teacher as my speech teacher, so it was a double whammy. I had a lot of work to do and was on my toes if I was called upon in class since I knew he was listening to what I was saying. People tell me today he did an excellent job because they can’t even tell I had a problem speaking. Wearing braces was a very arduous affair all during school. The orthodontist had made a contraption that would hook onto the front of the braces in order to try to push my teeth back. Had to wear that every night for it seems to me many years.
Having graduated was a big feat; however, I had no marketable skills to be employed with. My very first job during the summer between junior and senior high school was that of a camp counselor for disabled kids. Where’s the irony in that? I was employed by a store that was known as “Grants” back in the day in NYC as soon as I graduated. I learned I wasn’t the commuting type like my Dad was and applied to the local Internal Revenue Service for a position known as a “data transcriber.” That didn’t open up right away, so I traveled with one of my best friends on my very first plane ride to visit Seattle, Washington. After we came back, we found that both of us had gotten hired as a “seasonal” worker. With the IRS that means for six months during the busy tax season. Apparently, I got pretty good at it since they hired me permanently and I stayed there for seven years.
I have lived in many places including Austin, Texas and Los Angeles, California. After living in Los Angeles for three years and experiencing many earthquakes I decided to relocate back east to be closer to family and wound up in Boston, Massachusetts. During this time I don’t remember having very many health problems aside from the normal colds, and flu symptoms that seem to hit more often and I never understood why.
As a kid I was always getting sick and sometimes with unexplained ailments. Fainting was always happening but nobody really investigated why I was fainting. Weird places I would faint too – once in Church, many years ago I fainted three times at work and they sent me home in a taxi, another time on the subway on the blue line. Just in the past 10 years or so I had fainted in odd places too. One time I had just stepped outside on the front stoop to take my dog Bailey for a walk and I took a tumble down the steps. I recollect getting up and someone going by on the sidewalk asking me “If I was alright?” Sure I said I’m fine. Another time I fainted in the dog park and broke my wrist. I was diagnosed with heart failure in 2007. I was born with a bicuspid aortic valve, cardiomyopathy and a left branch bundle block. They fitted me with a “black box” – really a heart monitor – and of course I haven’t fainted since!! Oh, and I also have low calcium in my bones. The wrist wasn’t the only bone I had broken – it was one of many – but all through trauma. That’s when they discovered I had a low calcium count which is another symptom of 22q.11.2 Deletion Syndrome.
Over the years I’ve had many, many coughs. In the fall of last year (2012) I had one that got away from me. I was ill most of the year from it and then it went from a nasty cough to bronchitis that turned into pneumonia. Hence my first hospitalization at the age of 58. It was a blessing in disguise though. Hats off to the doctors at Tufts New England Medical Center. They are the ones that put all my unrelated symptoms together and gave it a name. DiGeorge Syndrome or 22q.11.2 Deletion Syndrome is neither one I nor anybody I know ever heard of but I tested positive for it. A lot of questions finally answered.
Being probably one of the oldest patients ever to be diagnosed, just goes to show you what an individual can learn to compensate and accomplish no matter the obstacles put before them. If I was “labeled” as being disabled I certainly would have had limitations to overcome but perhaps not have the determination or inclination to conquer them. There is hope for the kids identified with this syndrome, just needs to be nurtured and much more mentoring than usual. As an aside, I recently took a stress test on the treadmill. I hardly think I would be considered “disabled” since I made it to the second stage of the challenge and was on the treadmill for a full seven minutes at two miles an hour. To be honest, that was pretty slow for me because when I’m at the gym I jump on the treadmill and do it at three miles an hour for half an hour!